Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1017946059
rs1017946059
EVC
A 0.800 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
dbSNP: rs1017946059
rs1017946059
EVC
A 0.800 GeneticVariation CLINVAR A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229

2010
dbSNP: rs137852926
rs137852926
EVC2
0.800 GeneticVariation UNIPROT Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. 12571802

2003
dbSNP: rs137852926
rs137852926
EVC2
0.800 GeneticVariation UNIPROT A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. 12468274

2002
dbSNP: rs1017946059
rs1017946059
EVC
0.800 GeneticVariation UNIPROT

dbSNP: rs137852926
rs137852926
EVC2
C 0.800 CausalMutation CLINVAR

dbSNP: rs137852924
rs137852924
EVC2
0.710 GeneticVariation BEFREE Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC. 23026208

2012
dbSNP: rs770918273
rs770918273
EVC2
0.710 GeneticVariation BEFREE Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC. 23026208

2012
dbSNP: rs770918273
rs770918273
EVC2
T 0.710 GeneticVariation CLINVAR Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC. 23026208

2012
dbSNP: rs137852924
rs137852924
EVC2
A 0.710 CausalMutation CLINVAR Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum. 22190900

2011
dbSNP: rs137852924
rs137852924
EVC2
A 0.710 CausalMutation CLINVAR Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling. 21199751

2010
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
T 0.700 CausalMutation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549

2018
dbSNP: rs1424976594
rs1424976594
CRMP1 ; EVC
G 0.700 GeneticVariation CLINVAR Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. 29321360

2017
dbSNP: rs1553857801
rs1553857801
EVC ; EVC2
A 0.700 CausalMutation CLINVAR Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome. 28854412

2017
dbSNP: rs146538906
rs146538906
EVC2
A 0.700 CausalMutation CLINVAR We identified a novel pattern of germinal compound heterozygous nonsense EVC2 mutations of c.1814C > A (p. S605X) and c.2653C > T (p. R885X), leading to the diagnosis of EVC syndrome. 26818569

2016
dbSNP: rs1553850677
rs1553850677
EVC2
A 0.700 GeneticVariation CLINVAR Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. 26748586

2016
dbSNP: rs548681312
rs548681312
EVC2
A 0.700 CausalMutation CLINVAR Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. 26748586

2016
dbSNP: rs763363403
rs763363403
EVC2
T 0.700 GeneticVariation CLINVAR Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome. 26580685

2016
dbSNP: rs886037763
rs886037763
EVC2
C 0.700 CausalMutation CLINVAR De novo mutations in autosomal recessive congenital malformations. 27280866

2016
dbSNP: rs886037764
rs886037764
EVC2
T 0.700 CausalMutation CLINVAR De novo mutations in autosomal recessive congenital malformations. 27280866

2016
dbSNP: rs886037764
rs886037764
EVC2
T 0.700 GeneticVariation CLINVAR De novo mutations in autosomal recessive congenital malformations. 27280866

2016
dbSNP: rs137852927
rs137852927
EVC2
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs751356206
rs751356206
EVC2
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs760382778
rs760382778
EVC2
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs121908426
rs121908426
EVC
C 0.700 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013